Search

Large-scale genome-wide association studies of schizophrenia have uncovered hundreds of associated loci but with extremely limited representation of African diaspora populations. We surveyed electronic health records of 200,000 individuals of African ancestry in the Million Veteran and All of Us Research Programs, and, coupled with genotype-level data from four case-control studies, realized a combined sample size of 13,012 affected and 54,266 unaffected persons. Three genome-wide significant signals - near PLXNA4 , PMAIP1 , and TRPA1 - are the first to be independently identified in populations of predominantly African ancestry. Joint analyses of African, European, and East Asian ancestries across 86,981 cases and 303,771 controls, yielded 376 distinct autosomal loci, which were refined to 708 putatively causal variants via multi-ancestry fine-mapping. Utilizing single-cell functional genomic data from human brain tissue and two complementary approaches, transcriptome-wide association studies and enhancer-promoter contact mapping, we identified a consensus set of 94 genes across ancestries and pinpointed the specific cell types in which they act. We identified reproducible associations of schizophrenia polygenic risk scores with schizophrenia diagnoses and a range of other mental and physical health problems. Our study addresses a longstanding gap in the generalizability of research findings for schizophrenia across ancestral populations, underlining shared biological underpinnings of schizophrenia across global populations in the presence of broadly divergent risk allele frequencies.

Artifacts and foreign bodies can mimic microcalcifications. We report a series of 17 postsurgical women in whom mammograms showed fine linear radiodensities at the surgical bed. Vacuum-assisted biopsy histopathology of one of the lesions showed foreign bodies of different sizes with macrophage reaction. After discussion with the surgeons, we ascertained that a particular type of gauze was used that had fragmented, and we reproduced the mammographic appearance in a chicken breast. Furthermore, we showed the same pathology was reproduced in mice implanted with the gauze threads. It is important to be aware of this entity to avoid unnecessary examinations and even biopsy. The presence of foreign body linear gauze fragments at the surgical site can pose challenges in the mammographic follow-up of these patients., (© Society of Breast Imaging 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)